ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.857C>T (p.Pro286Leu) (rs140266192)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000300688 SCV000462551 uncertain significance Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336832 SCV000462552 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393756 SCV000462553 uncertain significance Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297117 SCV000462554 uncertain significance Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370467 SCV000462555 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000414025 SCV000490975 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing The P393L variant in the COL11A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P393L variant is observed in 40/126692 (0.03%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016). The P393L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P393L as a variant of uncertain significance.

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